All variants in the APOB gene

Information The variants shown are described using the NM_000384.2 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 1i c.82+77G>C - r.(=) p.(=) - - g.21043787C>G - Say-Hean Lye et al. (2013), dbSNP APOB_000005 rs12720762 1/8 - Nuur Athirah Binti Mohd Daud
+/. 3i c.237+296A>T - r.(=) p.(=) - - g.21042065T>A - Say-Hean Lye et al. (2013), dbSNP APOB_000008 rs12714254 1/8 - Nuur Athirah Binti Mohd Daud
+?/. 4i c.383+1054C>T - r.(=) p.(=) - - g.21039884G>A - Livy Alex et al. (2012), dbSNP APOB_000033 rs12720789 1/17 - Nuur Athirah Binti Mohd Daud
+?/. 4i c.384-1015T>G - r.(=) p.(=) - - g.21039126A>C - Livy Alex et al. (2012), dbSNP APOB_000032 rs12720796 1/17 - Nuur Athirah Binti Mohd Daud
+/. 5i c.538-77C>T - r.(=) p.(=) - - g.21037332G>A - Say-Hean Lye et al. (2013), dbSNP APOB_000003 rs12714238 1/8 - Nuur Athirah Binti Mohd Daud
./. 5i c.538-9C>T - r.(=) p.(=) - ClinVar g.21037264G>A - Livy Alex et al. (2012), dbSNP, ClinVar APOB_000031 rs1800478 1/17 - Nuur Athirah Binti Mohd Daud
+?/. 7i c.819-154A>G - r.(=) p.(=) - - g.21035055T>C - Livy Alex et al. (2012), dbSNP APOB_000030 rs12720842 1/17 - Nuur Athirah Binti Mohd Daud
+/. 12 c.1594C>T - r.(?) p.(Arg532Trp) - - g.21029662G>A - Say-Hean Lye et al. (2013), dbSNP APOB_000002 rs13306194 1/8 - Nuur Athirah Binti Mohd Daud
+?/. 14i c.2068-98T>C - r.(=) p.(=) - - g.21027062A>G - Livy Alex et al. (2012), dbSNP APOB_000029 rs3828293 1/17 - Nuur Athirah Binti Mohd Daud
+/. 14i c.2068-4T>A - r.spl? p.? - - g.21026968A>T - Say-Hean Lye et al. (2013), dbSNP APOB_000006 rs41291161 1/8 - Nuur Athirah Binti Mohd Daud
+/. 16i c.2437-501A>T - r.(=) p.(=) - - g.21024193T>A - Say-Hean Lye et al. (2013), dbSNP APOB_000007 rs57825321 1/8 - Nuur Athirah Binti Mohd Daud
+?/. 17i c.2605-223T>A - r.(=) p.(=) - - g.21023265A>T - Livy Alex et al. (2012), dbSNP APOB_000028 rs12720779 1/17 - Nuur Athirah Binti Mohd Daud
+?/. 18i c.2817-1223C>A - r.(=) p.(=) - - g.21021128G>T - Livy Alex et al. (2012), dbSNP APOB_000027 rs10199768 1/17 - Nuur Athirah Binti Mohd Daud
+/. 18i c.2817-529G>A - r.(=) p.(=) - - g.21020434C>T - Say-Hean Lye et al. (2013), dbSNP APOB_000004 rs12720772 1/8 - Nuur Athirah Binti Mohd Daud
+?/. 19 c.2981C>T - r.(?) p.(Pro994Leu) - - g.21019741G>A - Livy Alex et al. (2012), dbSNP APOB_000026 rs41288783 1/17 - Nuur Athirah Binti Mohd Daud
+?/. 20i c.3121+120G>A - r.(=) p.(=) - - g.21018872C>T - Livy Alex et al. (2012), dbSNP APOB_000025 rs12720828 1/17 - Nuur Athirah Binti Mohd Daud
+?/. 20i c.3122-1017C>T - r.(=) p.(=) - - g.21017666G>A - Livy Alex et al. (2012), dbSNP APOB_000024 rs12713911 1/17 - Nuur Athirah Binti Mohd Daud
+?/. 22 c.3337G>C - r.(?) p.(Asp1113His) - - g.21015541C>G - Livy Alex et al. (2012), dbSNP APOB_000023 rs12713844 1/17 - Nuur Athirah Binti Mohd Daud
./. 25 c.4163G>A - r.(?) p.(Arg1388His) - ClinVar g.21013213C>T - Say-Hean Lye et al. (2013), dbSNP, ClinVar APOB_000001 rs13306187 1/8 - Nuur Athirah Binti Mohd Daud
+?/. 25i c.4217-42G>A - r.(=) p.(=) - - g.21012693C>T - Livy Alex et al. (2012), dbSNP APOB_000022 rs12713771 1/17 - Nuur Athirah Binti Mohd Daud
+/. 26 c.7454A>G - r.(?) p.(Gln2485Arg) - - g.21009414T>C - Alyaa R Al-Khateeb et al.(2013) APOB_000037 rs779284353 - - Nur Aisyah Athirah
+/. 26 c.7545C>T - r.(=) p.(=) - Likely-Benign g.21009323G>A p.Thr2515Thr Alyaa R Al-Khateeb et al.(2013) APOB_000009 rs693 - - Nur Aisyah Athirah
-/. 26 c.7545C>T - r.(=) p.(=) - ClinVar g.21009323G>A Thr2515Thr dbSNP, ClinVar APOB_000009 rs693 1/9 - Nuur Athirah Binti Mohd Daud
./. 26 c.7619G>T - r.(?) p.(Gly2540Val) - ClinVar g.21009249C>A Gly2540Val dbSNP, ClinVar APOB_000010 rs571626569 1/9 - Nuur Athirah Binti Mohd Daud
+?/. 26 c.8039T>A - r.(?) p.(Leu2680Gln) - - g.21008829A>T - Livy Alex et al. (2012), dbSNP APOB_000021 rs1042013 1/17 - Nuur Athirah Binti Mohd Daud
./. 26 c.8148C>T - r.(=) p.(=) - ClinVar g.21008720G>A Ile2716Ile Livy Alex et al. (2012), dbSNP, ClinVar APOB_000011 rs6413458 1/17 - Nuur Athirah Binti Mohd Daud
./. 26 c.8148C>T - r.(=) p.(=) - ClinVar g.21008720G>A Ile2716Ile dbSNP, ClinVar APOB_000011 rs6413458 1/9 - Nuur Athirah Binti Mohd Daud
+/. 26 c.8216C>T - r.(?) p.(Pro2739Leu) - - g.21008652G>A - dbSNP APOB_000012 rs676210 1/9 - Nuur Athirah Binti Mohd Daud
?/. 26 c.9544C>A - r.(?) p.(His3182Asn) - ClinVar g.21007324G>T - Livy Alex et al. (2012), dbSNP, ClinVar APOB_000020 rs12720848 1/17 - Nuur Athirah Binti Mohd Daud
+/. 26 c.10576A>G - r.(?) p.(Thr3526Ala) - - g.21006292T>C - Alyaa R Al-Khateeb et al.(2013) APOB_000038 rs756696584 - - Nur Aisyah Athirah
+/. 26 c.10700C>T - r.(?) p.(Thr3567Met) - Uncertain significance g.21006168G>A - Alyaa R Al-Khateeb et al.(2013) APOB_000036 rs368278927 - - Nur Aisyah Athirah
+/. 26 c.10701G>A - r.(=) p.(=) - Likely-Benign g.21015243T>C p.Thr3567Thr Alyaa R Al-Khateeb et al.(2013) APOB_000034 rs12713558 - - Nur Aisyah Athirah
-?/. 26 c.10701G>T - r.(=) p.(=) - ClinVar g.21006167C>A Thr3567Thr dbSNP, ClinVar APOB_000013 rs12713558 1/9 - Nuur Athirah Binti Mohd Daud
+/. 26 c.10996G>A - r.(?) p.(Glu3666Lys) - - g.21005872C>T - Alyaa R Al-Khateeb et al.(2013) APOB_000039 rs1194941592 - - Nur Aisyah Athirah
./. 27i c.11904-7C>T - r.(=) p.(=) - ClinVar g.21004459G>A - Livy Alex et al. (2012), dbSNP, ClinVar APOB_000019 rs12720851 1/17 - Nuur Athirah Binti Mohd Daud
+?/. 29 c.12382G>A - r.(?) p.(Val4128Met) - - g.21003040C>T - Livy Alex et al. (2012), dbSNP APOB_000018 rs1801703 1/17 - Nuur Athirah Binti Mohd Daud
+?/. 29 c.12541G>A - r.(?) p.(Glu4181Lys) - - g.21002881C>T - ClinVar APOB_000017 - 1/9 - Nuur Athirah Binti Mohd Daud
+/. 29 c.12809G>C - r.(?) p.(Arg4270Thr) - - g.21002613C>G - Alyaa R Al-Khateeb et al.(2013) APOB_000014 rs1801702 - - Nur Aisyah Athirah
+?/. 29 c.12809G>C - r.(?) p.(Arg4270Thr) - - g.21002613C>G - dbSNP APOB_000014 rs1801702 1/9 - Nuur Athirah Binti Mohd Daud
+/. 29 c.12890G>A - r.(?) p.(Arg4297His) - Uncertain significance g.21002532C>T - Alyaa R Al-Khateeb et al.(2013) APOB_000015 rs375701380 - - Nur Aisyah Athirah
?/. 29 c.12890G>A - r.(?) p.(Arg4297His) - ClinVar g.21002532C>T - dbSNP, ClinVar APOB_000015 rs375701380 1/9 - Nuur Athirah Binti Mohd Daud
+/. 29 c.13013G>A - r.(?) p.(Ser4338Asn) - Benign g.21002409C>T - Alyaa R Al-Khateeb et al.(2013) APOB_000016 - - - Nur Aisyah Athirah
+?/. 29 c.13013G>A - r.(?) p.(Ser4338Asn) - - g.21002409C>T - dbSNP APOB_000016 rs1042034 1/9 - Nuur Athirah Binti Mohd Daud
+/. 29 c.13028A>G - r.(?) p.(Tyr4343Cys) - Uncertain significance g.21002394T>C - Alyaa R Al-Khateeb et al.(2013) APOB_000035 - - - Nur Aisyah Athirah
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